A familial 16p11.2 microdeletion associated with mental retardation, scoliosis, and genital tract malformation

Abstract Objectives: In this study, we aimed to identify the family members carried the same microdeletion and to discover the symptoms of a familial 16p11.2 microdeletion were greatly different. Case Report: The son, a 6-years-old boy, displayed scoliosis, mental retardation, and language retardation. The mother displayed mild mental retardation, but no scoliosis or language retardation or genital tract malformation. Pedigree research revealed that the mother, her son, and her fetus carried the same 16p11.2 microdeletion through CNV-sequencing, Whole Exon Sequencing, and PCR, but the father was normal. And her fetal displayed no scoliosis by ultrasound. After birth, the baby displayed genital tract malformation, but no scoliosis or mental retardation.Conclusions: This finding uncovered that the symptoms of 16p11.2 microdeletion syndrome are greatly different, even in the same segment microdeletion.